This study investigates how frequently SOD1 and C9orf72 gene mutations occur in French patients with ALS (amyotrophic lateral sclerosis), using blood samples. It enrolled adults aged 18 and older with a diagnosis of ALS based on established criteria. It was a non-phased study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Adult aged ≥ 18 years old * ALS defined, probable or likely based on neurophysiological data according to Airlie House criteria (Brooks, 2000) * Sporadic ALS or familial ALS defined by the existence of a case of ALS or FTD among first or second degree relatives of the patient included (Byrne et al, 2011). * Participant affiliated to a social security scheme * Free, informed and signed consent for the examination of the genetic characteristics of the participant Exclusion Criteria: * All conditions mimicking ALS including motor neuropathies with multiple conduction blocks and all cases of ALS that do not meet the criteria of the Airlie House classification. * Patients who are cognitively incapable of signing the consent to participate in this study.